I-Alport syndrome

I-Alport syndrome yisifo esizuzwe njengefa esilimaza imithambo yegazi emincane ezinso. Kubuye kubangele ukungezwa nezinkinga zamehlo.

I-Alport syndrome iyindlela ezuzwe njengefa yokuvuvukala kwezinso (nephritis). Kubangelwa ukukhubazeka (ukuguquka kwesakhi zofuzo) kweprotheni esikhunjeni esixhuma, esibizwa nge-collagen.

Lesi sifo asivamile. Kunezinhlobo ezintathu zofuzo:

• I-X-linked Alport syndrome (XLAS) - Lolu uhlobo oluvame kakhulu. Lesi sifo sinzima kakhulu kwabesilisa kunabesifazane.
• I-Autosomal recessive Alport syndrome (ARAS) - Abesilisa nabesifazane banesifo esibi ngokulinganayo.
• I-Autosomal dominant Alport syndrome (ADAS) - Lolu uhlobo oluyivelakancane. Abesilisa nabesifazane banezifo ezinzima ngokulinganayo.

IZINYO

Ngazo zonke izinhlobo ze-Alport syndrome izinso ziyathinteka. Imithambo yegazi emincane ese-glomeruli yezinso iyalimala. I-glomeruli ihlunga igazi ukwenza umchamo futhi isuse imfucuza egazini.

Ekuqaleni, azikho izimpawu. Ngokuhamba kwesikhathi, njengoba ama-glomeruli esonakala ngokwengeziwe, ukusebenza kwezinso kuyalahleka futhi kudoti imikhiqizo noketshezi kuyakha emzimbeni. Isimo singadlulela esigabeni sokugcina se-renal disease (ESRD) sisencane, phakathi kobusha kanye neminyaka engama-40. Kuleli qophelo, kudingeka i-dialysis noma ukufakelwa izinso.

Izimpawu zezinkinga zezinso zifaka:

• Umbala womchamo ongajwayelekile
• Igazi emchameni (okungabhebhetheka ngezifo eziphezulu zokuphefumula noma ukuvivinya umzimba)
• Ubuhlungu beFlank
• Umfutho wegazi ophezulu
• Ukuvuvukala emzimbeni wonke

IZINDlebe

Ngokuhamba kwesikhathi, i-Alport syndrome nayo iholela ekulahlekelweni kokuzwa. Ngeminyaka yokuqala yentsha, kuvamile kwabesilisa abane-XLAS, yize kungabesifazane, ukuzwa kokuzwa akuvamile futhi kwenzeka uma sebekhulile. Nge-ARAS, abafana namantombazane banezindlebe zokuzwa ngesikhathi sobuntwana. Nge-ADAS, kwenzeka kamuva empilweni.

Ukulahleka kokuzwa kuvame ukwenzeka ngaphambi kokuhluleka kwezinso.

AMEHLO

I-Alport syndrome nayo iholela ezinkingeni zamehlo, kufaka phakathi:

• Isimo esingajwayelekile selensi (i-anterior lenticonus), engaholela ekwehleni kancane kombono kanye nolwelwesi.
• Ukuguguleka kwe-Corneal lapho kulahleka khona ungqimba olungaphandle lwesembozo senhlamvu yeso, okuholela ebuhlungwini, ukulunywa, noma ukubomvu kweso, noma ukungaboni kahle.
• Umbala ongajwayelekile we-retina, isimo esibizwa ngokuthi i-dot-and-fleck retinopathy. Akubangeli izinkinga zombono, kodwa kungasiza ukuxilonga i-Alport syndrome.
• Imbobo ye-Macular lapho kukhona ukuncipha noma ikhefu ku-macula. I-macula iyingxenye ye-retina eyenza umbono ophakathi ubukhali futhi unemininingwane eminingi. Imbobo ye-macular ibangela ukufiphala noma ukuphazamiseka kombono ophakathi.

Umhlinzeki wezokunakekelwa kwempilo uzokuhlola abuze ngezimpawu zakho.

Ukuhlolwa okulandelayo kungenziwa:

• I-BUN ne-serum creatinine
• Qedela ukubalwa kwegazi
• I-biopsy yezinso
• Ukuhlolwa komchamo

Uma umhlinzeki wakho esola ukuthi une-Alport syndrome, uzoba nokuhlolwa kombono nokuzwa.

Izinhloso zokwelashwa zifaka ukuqapha nokulawula lesi sifo nokwelapha izimpawu zaso.

Umhlinzeki wakho angancoma noma yikuphi okulandelayo:

• Ukudla okunqanda usawoti, uketshezi, ne-potassium
• Imithi yokulawula umfutho wegazi ophezulu

Isifo sezinso siphethwe ngu:

• Ukuthatha imithi ukunciphisa ukulimala kwezinso
• Ukudla okunqanda usawoti, uketshezi, namaprotheni

Ukulahlekelwa kokuzwa kungalawulwa ngezinsiza-kuzwa. Izinkinga zamehlo ziphathwa njengoba kudingeka. Isibonelo, i-lens engavamile ngenxa ye-lenticonus noma i-cataract ingashintshwa.

Ukwelulekwa ngofuzo kunganconywa ngoba ukuphazamiseka kuzuzwe njengefa.

Lezi zinsizakusebenza zinikeza imininingwane eminingi nge-Alport syndrome:

• I-Alport Syndrome Foundation - www.alportsyndrome.org/about-alport-syndrome
• INational Kidney Foundation - www.kidney.org/atoz/content/alport
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/alport-syndrome

Abesifazane bavame ukuba nempilo ejwayelekile bengenazo izimpawu zesifo ngaphandle kwegazi elisemchameni. Ezimweni ezingavamile, abesifazane banengcindezi ephezulu yegazi, ukuvuvukala, nokungezwa kwezinzwa njengenkinga yokukhulelwa.

Emadodeni, ukungezwa, izinkinga zokubona, kanye nesifo sezinso sokugcina kungenzeka kube neminyaka engama-50.

Njengoba izinso zihluleka, i-dialysis noma ukufakelwa kabusha kuzodingeka.

Shayela i-aphoyintimenti nomhlinzeki wakho uma:

• Unezimpawu ze-Alport syndrome
• Unomlando womndeni we-Alport syndrome futhi uhlela ukuba nezingane
• Okukhipha umchamo wakho kuyehla noma kume noma ubona igazi emchameni wakho (lokhu kungaba uphawu lwesifo sezinso esingalapheki)

Ukuqwashiswa kwezici eziyingozi, njengomlando womndeni walesi sifo, kungavumela isimo ukuthi sitholakale kusenesikhathi.

Nephritis ifa; Hematuria - nephropathy - isithulu; I-nephritis yomndeni eyophayo; Izithulu ezibangelwa ifa kanye nephropathy

• Ukwakheka kwezinso

UGregory MC. I-Alport syndrome nezinkinga ezihlobene nayo. Ku: Gilbert SJ, Weiner DE, ama-eds. I-Primer yeNational Kidney Foundation yezifo zezinso. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 42.

URadhakrishnan J, Appel GB, D'Agati VD. Isifo se-glomerular sesibili. Ku: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, ama-eds. IBrenner neRector's The Kidney. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 32.

URheault MN, uKashtan CE. I-Alport syndrome namanye ama-syndromes womndeni we-glomerular. Ku: Feehally J, Floege J, Tonelli M, Johnson RJ, abahleli. I-Nephrology Yomtholampilo Ephelele. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2019: isahluko 46.